Mutagenetix > Incidental Mutation

Incidental Mutation 'R2135:Marchf6'

235751

Institutional Source

Beutler Lab

Gene Symbol

Marchf6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane associated ring-CH-type finger 6

Synonyms

March6, F830029L24Rik

MMRRC Submission

040138-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R2135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31456045-31531172 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 31509910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 26 (C26*)

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090227]

AlphaFold

Q6ZQ89

Predicted Effect

probably null
Transcript: ENSMUST00000090227
AA Change: C26*

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: C26*

Domain	Start	End	E-Value	Type
RINGv	8	56	1.13e-21	SMART
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
low complexity region	223	259	N/A	INTRINSIC
transmembrane domain	290	312	N/A	INTRINSIC
transmembrane domain	332	354	N/A	INTRINSIC
transmembrane domain	367	389	N/A	INTRINSIC
transmembrane domain	420	442	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC
transmembrane domain	522	540	N/A	INTRINSIC
low complexity region	574	599	N/A	INTRINSIC
transmembrane domain	633	655	N/A	INTRINSIC
transmembrane domain	675	697	N/A	INTRINSIC
transmembrane domain	720	742	N/A	INTRINSIC
transmembrane domain	762	784	N/A	INTRINSIC
transmembrane domain	805	827	N/A	INTRINSIC
transmembrane domain	847	866	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228122

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,509 (GRCm39)	H116Q	probably benign	Het
Adamts16	C	A	13: 70,949,126 (GRCm39)	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,672,676 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,114,509 (GRCm39)	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,032,498 (GRCm39)	L253P	probably damaging	Het
Arap3	T	C	18: 38,107,509 (GRCm39)	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,403,712 (GRCm39)	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,868,760 (GRCm39)	I574N	probably damaging	Het
Cecr2	C	T	6: 120,697,923 (GRCm39)	T74M	probably damaging	Het
Ces5a	C	A	8: 94,226,369 (GRCm39)	E481D	probably benign	Het
Cfap74	C	G	4: 155,514,397 (GRCm39)	N544K	probably damaging	Het
Cfap74	T	A	4: 155,514,408 (GRCm39)	L548Q	probably damaging	Het
Cfb	C	T	17: 35,076,254 (GRCm39)	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,845,433 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,123,604 (GRCm39)	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,429 (GRCm39)		probably benign	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Ermp1	T	C	19: 29,623,465 (GRCm39)	D119G	possibly damaging	Het
Ext1	G	T	15: 52,965,140 (GRCm39)	Q409K	possibly damaging	Het
Fat4	A	T	3: 39,034,882 (GRCm39)	I2845F	probably damaging	Het
Frmd6	A	G	12: 70,941,771 (GRCm39)	N494S	probably benign	Het
Fscn3	A	G	6: 28,431,583 (GRCm39)	T305A	probably benign	Het
Gbx1	G	T	5: 24,731,220 (GRCm39)	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,044,638 (GRCm39)	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,700,726 (GRCm39)	D572V	probably damaging	Het
Idh1	A	C	1: 65,201,078 (GRCm39)	M291R	probably damaging	Het
Kcnt2	A	G	1: 140,356,551 (GRCm39)	Y330C	probably damaging	Het
Kdm4a	A	G	4: 117,999,656 (GRCm39)	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,215 (GRCm39)	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,070,609 (GRCm39)	S96P	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Msra	G	A	14: 64,360,657 (GRCm39)	P228L	probably damaging	Het
Mycbp2	A	T	14: 103,383,378 (GRCm39)	D395E	probably benign	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Ncr1	C	A	7: 4,343,756 (GRCm39)		probably benign	Het
Nkd1	T	C	8: 89,318,278 (GRCm39)	I201T	probably benign	Het
Nsrp1	A	T	11: 76,945,834 (GRCm39)		probably benign	Het
Or2t48	A	C	11: 58,420,611 (GRCm39)	I67S	probably damaging	Het
Or7e177	T	A	9: 20,211,593 (GRCm39)	D32E	probably benign	Het
Pate5	A	C	9: 35,750,479 (GRCm39)		probably null	Het
Pkdrej	T	C	15: 85,700,707 (GRCm39)	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,526,225 (GRCm39)	H281Q	possibly damaging	Het
Ppp2r3d	A	C	9: 101,088,757 (GRCm39)	M522R	probably damaging	Het
Prdm12	T	C	2: 31,530,325 (GRCm39)	F72S	possibly damaging	Het
Prima1	A	T	12: 103,168,949 (GRCm39)	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,627,965 (GRCm39)	H142R	probably benign	Het
Rasgrf2	G	A	13: 92,120,374 (GRCm39)	A793V	probably benign	Het
Rbsn	T	A	6: 92,166,854 (GRCm39)	M597L	probably benign	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Rp9	T	C	9: 22,379,425 (GRCm39)	K25E	possibly damaging	Het
Sec31b	T	C	19: 44,523,135 (GRCm39)	S211G	probably damaging	Het
Shank2	C	T	7: 143,964,971 (GRCm39)	P1070S	probably damaging	Het
Sla	A	G	15: 66,654,563 (GRCm39)	V241A	probably benign	Het
Slc25a40	A	G	5: 8,477,489 (GRCm39)	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,685,608 (GRCm39)	S164P	probably benign	Het
Slc7a5	A	T	8: 122,610,444 (GRCm39)	W457R	probably null	Het
Slco6c1	A	G	1: 97,032,542 (GRCm39)	M303T	probably benign	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Tecta	A	C	9: 42,251,581 (GRCm39)	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,319,313 (GRCm39)	H280Q	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem30b	A	G	12: 73,592,107 (GRCm39)	L336P	probably damaging	Het
Tmem94	A	G	11: 115,685,575 (GRCm39)	I943V	probably benign	Het
Tshb	A	G	3: 102,685,464 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,818,035 (GRCm39)	V116A	probably benign	Het
Vmn2r76	A	G	7: 85,880,219 (GRCm39)	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,295,067 (GRCm39)	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,292,826 (GRCm39)	R2108G	possibly damaging	Het

Other mutations in Marchf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Marchf6	APN	15	31,475,909 (GRCm39)	missense	probably benign	0.00
IGL00902:Marchf6	APN	15	31,485,124 (GRCm39)	missense	probably damaging	1.00
IGL02352:Marchf6	APN	15	31,509,905 (GRCm39)	missense	probably damaging	1.00
IGL02359:Marchf6	APN	15	31,509,905 (GRCm39)	missense	probably damaging	1.00
IGL02565:Marchf6	APN	15	31,490,712 (GRCm39)	splice site	probably benign
IGL02735:Marchf6	APN	15	31,486,266 (GRCm39)	missense	probably benign	0.00
IGL02808:Marchf6	APN	15	31,478,552 (GRCm39)	missense	probably benign	0.32
IGL03122:Marchf6	APN	15	31,478,439 (GRCm39)	critical splice donor site	probably null
IGL03235:Marchf6	APN	15	31,486,141 (GRCm39)	missense	probably damaging	1.00
IGL03238:Marchf6	APN	15	31,462,087 (GRCm39)	critical splice donor site	probably benign
IGL03263:Marchf6	APN	15	31,486,508 (GRCm39)	missense	probably benign	0.01
ideation	UTSW	15	31,482,650 (GRCm39)	missense	possibly damaging	0.95
R0003:Marchf6	UTSW	15	31,469,678 (GRCm39)	splice site	probably benign
R0056:Marchf6	UTSW	15	31,467,880 (GRCm39)	missense	possibly damaging	0.68
R0115:Marchf6	UTSW	15	31,475,958 (GRCm39)	missense	probably benign
R0126:Marchf6	UTSW	15	31,462,151 (GRCm39)	missense	probably benign	0.00
R0148:Marchf6	UTSW	15	31,490,758 (GRCm39)	missense	probably damaging	0.99
R0744:Marchf6	UTSW	15	31,480,437 (GRCm39)	missense	probably benign	0.00
R0833:Marchf6	UTSW	15	31,480,437 (GRCm39)	missense	probably benign	0.00
R1205:Marchf6	UTSW	15	31,469,819 (GRCm39)	missense	probably benign	0.01
R1339:Marchf6	UTSW	15	31,486,548 (GRCm39)	missense	probably benign	0.12
R1485:Marchf6	UTSW	15	31,498,839 (GRCm39)	missense	probably damaging	0.96
R1885:Marchf6	UTSW	15	31,502,952 (GRCm39)	missense	probably benign	0.00
R1889:Marchf6	UTSW	15	31,459,339 (GRCm39)	missense	possibly damaging	0.86
R1984:Marchf6	UTSW	15	31,469,792 (GRCm39)	missense	probably damaging	0.99
R2007:Marchf6	UTSW	15	31,462,087 (GRCm39)	critical splice donor site	probably null
R2046:Marchf6	UTSW	15	31,486,580 (GRCm39)	missense	probably benign	0.01
R3116:Marchf6	UTSW	15	31,486,265 (GRCm39)	missense	probably benign	0.00
R3710:Marchf6	UTSW	15	31,509,972 (GRCm39)	splice site	probably benign
R3715:Marchf6	UTSW	15	31,465,405 (GRCm39)	missense	probably benign	0.00
R3749:Marchf6	UTSW	15	31,462,160 (GRCm39)	missense	probably benign	0.00
R3944:Marchf6	UTSW	15	31,488,960 (GRCm39)	missense	probably benign	0.00
R4327:Marchf6	UTSW	15	31,498,887 (GRCm39)	missense	probably benign	0.17
R4329:Marchf6	UTSW	15	31,498,887 (GRCm39)	missense	probably benign	0.17
R5001:Marchf6	UTSW	15	31,465,468 (GRCm39)	missense	probably damaging	0.98
R5149:Marchf6	UTSW	15	31,462,140 (GRCm39)	missense	possibly damaging	0.53
R5654:Marchf6	UTSW	15	31,486,082 (GRCm39)	missense	probably damaging	1.00
R6163:Marchf6	UTSW	15	31,465,497 (GRCm39)	missense	probably benign
R6172:Marchf6	UTSW	15	31,483,013 (GRCm39)	missense	possibly damaging	0.86
R6381:Marchf6	UTSW	15	31,467,838 (GRCm39)	missense	probably benign	0.01
R6888:Marchf6	UTSW	15	31,459,379 (GRCm39)	missense	probably benign	0.00
R7347:Marchf6	UTSW	15	31,486,505 (GRCm39)	missense	probably benign	0.00
R8029:Marchf6	UTSW	15	31,496,148 (GRCm39)	critical splice donor site	probably null
R8316:Marchf6	UTSW	15	31,482,650 (GRCm39)	missense	possibly damaging	0.95
R8342:Marchf6	UTSW	15	31,494,262 (GRCm39)	missense	possibly damaging	0.91
R8431:Marchf6	UTSW	15	31,505,892 (GRCm39)	nonsense	probably null
R8437:Marchf6	UTSW	15	31,482,695 (GRCm39)	missense	possibly damaging	0.69
R8554:Marchf6	UTSW	15	31,482,976 (GRCm39)	missense	probably damaging	1.00
R8893:Marchf6	UTSW	15	31,498,850 (GRCm39)	missense	probably damaging	1.00
R9523:Marchf6	UTSW	15	31,498,845 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGATTGTTAGAGAGTGTACACAG -3'
(R):5'- AGATTCAGGTGCACCCTTC -3'

Sequencing Primer
(F):5'- CTAATCATGTGGTATCATATAAGGGC -3'
(R):5'- GATTCAGGTGCACCCTTCACTATAAG -3'

Posted On

2014-10-01